ABR ABR activator of RhoGEF and GTPase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABRprovided by HGNC
Official Full Name: ABR activator of RhoGEF and GTPaseprovided by HGNC
Primary source: HGNC:HGNC:81
See related: Ensembl:ENSG00000159842 MIM:600365; AllianceGenome:HGNC:81
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MDB
Summary: This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]
Expression: Ubiquitous expression in brain (RPKM 31.0), heart (RPKM 11.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (1003519..1229722, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (890209..1120740, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (906759..1133016, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The knockdown of GULP1 and ABR using siRNAs decreased phagocytosis by 40%.
Title: Genomic/proteomic analyses of dexamethasone-treated human trabecular meshwork cells reveal a role for GULP1 and ABR in phagocytosis.
ABR depletion leads to G2/M accumulation in human embryonic stem cells. Centrosome dynamics and mitotic fidelity are compromised upon ABR depletion. When mitosis progresses without ABR, human embryonic stem cells show a high incidence of aneuploidy.
Title: A RHO Small GTPase Regulator ABR Secures Mitotic Fidelity in Human Embryonic Stem Cells.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
During vestibular morphogenesis, Abr and Bcr play complementary roles. Small Rho-related GTPases like Abr and Bcr are important for balance and motor coordination.
Title: Vestibular dysgenesis in mice lacking Abr and Bcr Cdc42/RacGAPs.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-09-05) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-09-05) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of active BCR-related (ABR) in human B cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-19743 (e-PCR)
- UniSTS:59928

SHGC-153854 (e-PCR)
- UniSTS:183067

RH46166 (e-PCR)
- UniSTS:32541

SHGC-149018 (e-PCR)
- UniSTS:173093

GDB:461131 (e-PCR)
- UniSTS:157492

RH66671 (e-PCR)
- UniSTS:91964

SHGC-84866 (e-PCR)
- UniSTS:104767

SHGC-147890 (e-PCR)
- UniSTS:172895

G11811 (e-PCR)
- UniSTS:43457

D17S1444E (e-PCR)
- UniSTS:150483

D17S1529 (e-PCR), detects polymorphism
- UniSTS:80866

D17S1840 (e-PCR)
- UniSTS:49132

D17S596 (e-PCR), detects polymorphism
- UniSTS:22523

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation of chemical synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in small GTPase-mediated signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: active breakpoint cluster region-related protein

Names: ABR, RhoGEF and GTPase activating protein; active BCR-related

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011987.2 RefSeqGene

Range

54700..231162

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001092.5 → NP_001083.2 active breakpoint cluster region-related protein isoform b

See identical proteins and their annotated locations for NP_001083.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC015884, AK124547, AK126882, AK127851, AK295191, AL135250, DA106008, DA327723

Consensus CDS

CCDS11000.1

UniProtKB/TrEMBL

A0A0G2JQ41

Related

ENSP00000291107.2, ENST00000291107.6

Conserved Domains (4) summary

cd08686
Location:469 → 589

C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein

cd00160
Location:55 → 245

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd04387
Location:608 → 803

RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...

cd13366
Location:240 → 423

PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
NM_001159746.3 → NP_001153218.1 active breakpoint cluster region-related protein isoform c

See identical proteins and their annotated locations for NP_001153218.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 3 and 6 encode the same isoform (c).

Source sequence(s)

AC015884, AC016292, AK124547, AK126882, AK127851, AK302682, AL135250, DA327723

Consensus CDS

CCDS54060.1

UniProtKB/TrEMBL

B7Z7Z1

Related

ENSP00000442048.2, ENST00000544583.6

Conserved Domains (4) summary

cd08686
Location:460 → 580

C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein

cd00160
Location:46 → 236

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd04387
Location:599 → 794

RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...

cd13366
Location:231 → 414

PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
NM_001256847.3 → NP_001243776.1 active breakpoint cluster region-related protein isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a large portion of the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC015884, AK124547, AK126882, AK127851, AK299909, AK300336, AL135250, HY132628

Consensus CDS

CCDS58497.1

UniProtKB/Swiss-Prot

Q12979

UniProtKB/TrEMBL

B7Z683, Q6ZT60

Related

ENSP00000445198.2, ENST00000543210.6

Conserved Domains (2) summary

cd04387
Location:96 → 291

RhoGAP_Bcr; RhoGAP_Bcr: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, ...

cl14603
Location:49 → 77

C2; C2 domain
NM_001282149.2 → NP_001269078.1 active breakpoint cluster region-related protein isoform e

See identical proteins and their annotated locations for NP_001269078.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC015884, AK124547, AK126882, AK127851, AK299909, AK302682, AL135250, DA327723

Consensus CDS

CCDS73936.1

UniProtKB/TrEMBL

A0A0G2JQ41, B7Z683

Related

ENSP00000437429.2, ENST00000536794.6

Conserved Domains (4) summary

cd08686
Location:288 → 408

C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein

cd04387
Location:427 → 622

RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...

cd13366
Location:59 → 242

PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain

cl02571
Location:17 → 64

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
NM_001322840.2 → NP_001309769.1 active breakpoint cluster region-related protein isoform c

Status: REVIEWED

Source sequence(s)

AC015884, AC016292

Consensus CDS

CCDS54060.1

UniProtKB/TrEMBL

B7Z7Z1

Related

ENSP00000461565.2, ENST00000574437.5

Conserved Domains (4) summary

cd08686
Location:460 → 580

C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein

cd00160
Location:46 → 236

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd04387
Location:599 → 794

RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...

cd13366
Location:231 → 414

PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
NM_001322841.2 → NP_001309770.1 active breakpoint cluster region-related protein isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (7) initiates from an upstream promoter and differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (f) has distinct N-terminus and is longer than isoform a.

Source sequence(s)

AC015884, AC144836, AK126882, AK127851, AK302682, AL135250, BE675741, BM547076

Consensus CDS

CCDS92217.1

UniProtKB/TrEMBL

I3L4Y1

Related

ENSP00000461629.3, ENST00000574139.7
NM_001322842.2 → NP_001309771.1 active breakpoint cluster region-related protein isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 3' coding region and 3' UTR and lacks multiple 3' coding exons compared to variant 1. The encoded isoform (g) has a distinct N- and C- termini and is shorter than isoform a.

Source sequence(s)

AC144836

Conserved Domains (1) summary

pfam09036
Location:3 → 65

Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerization domain
NM_021962.5 → NP_068781.2 active breakpoint cluster region-related protein isoform a

See identical proteins and their annotated locations for NP_068781.2

Status: REVIEWED

Source sequence(s)

AC015884, AC016292, AK124547, AK126882, AK127851, AK302682, AL135250, DA327723, DR003682, HY115199, HY133863, U01147

Consensus CDS

CCDS10999.1

UniProtKB/Swiss-Prot

B3KW89, B7Z6H7, D3DTH3, D3DTH4, F5H3S2, F5H8B3, Q12979, Q13693, Q13694

UniProtKB/TrEMBL

A0A1C7CYZ0

Related

ENSP00000303909.5, ENST00000302538.10

Conserved Domains (4) summary

cd08686
Location:506 → 626

C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein

cd00160
Location:92 → 282

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd04387
Location:645 → 840

RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...

cd13366
Location:277 → 460

PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain